Medicine
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THOC1 mutation causes Deafness, autosomal dominant 86 [OMIM: 620280]. However, it has not been reported whether deletion of the THOC1 gene causes deafness. ⋯ From the above results, we propose that in our patient, THOC1 HI may cause unilateral deafness. Therefore, this study provides a new THOC1 deletion associated with unilateral deafness.
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Primary ovarian leiomyoma is a rare benign tumor. The exact histological origin and pathogenesis of primary ovarian leiomyoma are still unclear, while its preoperative imaging diagnosis is often challenging and prone to misdiagnosis. The study aims to elucidate the diagnosis of primary ovarian leiomyoma and to distinguish it from fibroma. ⋯ In the diagnosis of primary ovarian leiomyoma, our case emphasizes the importance of microscopic features as an effective approach to distinguish it from ovarian fibroma, leiomyosarcoma, and stromal tumors. Additionally, personalized treatment should be considered based on the patient age and fertility needs.
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Case Reports
Oral health management in children with severe congenital neutropenia with periodontitis: Case report.
Severe congenital neutropenia (SCN) is a rare and heterogeneous genetic disease. By describing the diagnosis and treatment of a child with SCN and periodontitis, this case provides a reference for the oral health management of a child with SCN and periodontitis. ⋯ Once SCN is diagnosed, individualized treatment plans can be developed according to the characteristics of the disease and its impact on oral health, which can effectively control the interaction between SCN and periodontal disease and reduce the occurrence of serious infection.
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Case Reports
Case report: A case of renal vessel rupture caused by severe vomiting in early pregnancy.
Spontaneous renal vessel rupture is a rare clinical emergency. However, pregnancy symptoms and signs are not obvious, and the limited examination methods obscure the observation. Thus, early renal rupture is challenging to detect, leading to misdiagnosis and poor prognosis. This paper aims to improve clinicians' understanding of this disease and reduce the rate of clinical misdiagnosis. ⋯ To avoid missed diagnosis and misdiagnosis, patients with abdominal pain caused by severe vomiting during pregnancy must be closely monitored. Additionally, treatment should be considered individually to ensure the safety of both mother and child. Therefore, spontaneous renal vessel rupture should be considered as the differential diagnosis.
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Case Reports
Rehabilitation report of 2 cases of spinal cord ischemic injury after intra-aortic repair.
Spinal cord ischemia injury is a serious complication after intra-aortic surgery, with a low incidence but high disability rate. However, patients often do not receive comprehensive treatment in the early stages of the disease. Therefore, active neurological intervention is needed to protect and prevent spinal cord ischemia during and after surgery. In this paper, rehabilitation program and imaging data of 2 cases with spinal cord ischemic injury are presented and discussed regarding causes, prevention and acute treatment with this disease, which could be referred by clinicians. ⋯ Perioperative spinal cord protection is directly related to postoperative quality of life. Once the symptoms of spinal cord ischemic injury occur, cerebrospinal fluid drainage should be performed as soon as possible to increase mean arterial pressure. At the same time, methylprednisolone, ganglioside, anticoagulation, vasodilator drugs, and symptomatic supportive treatments are required. Intercostal artery and subclavian artery are reconstructed if necessary. Symptom stability flags referral to commence rehabilitation. Repetitive functional training is necessary to help patients return to the family and society as soon as possible.